Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes

Ann Neurol. 1991 Jun;29(6):680-3. doi: 10.1002/ana.410290619.


A 9-year-old girl and an 11-year-old boy had ptosis, progressive external ophthalmoplegia, pigmentary retinopathy, and sensorineural hearing loss. The girl had diabetes mellitus and the boy had hypoparathyroidism. Both children also developed recurrent vomiting and cerebral infarcts with lactic acidosis. Muscle biopsy specimens showed ragged-red fibers and Southern analysis demonstrated a distinct heteroplasmic deletion of muscle mitochondrial DNA in each patient but no evidence of the point mutation in the transfer RNALeu(UUR) gene recently identified in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). These 2 children had combined features of Kearns-Sayre syndrome and MELAS, suggesting that mitochondrial DNA deletions occasionally can have pleomorphic clinical expression.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Lactic / etiology
  • Acute Kidney Injury / etiology
  • Brain Diseases, Metabolic / complications
  • Brain Diseases, Metabolic / genetics*
  • Brain Diseases, Metabolic / pathology
  • Cerebrovascular Disorders / etiology
  • Child
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Diabetes Mellitus, Type 1 / complications
  • Epilepsy / etiology
  • Female
  • Hemiplegia / etiology
  • Humans
  • Kearns-Sayre Syndrome / complications
  • Kearns-Sayre Syndrome / genetics*
  • Kearns-Sayre Syndrome / pathology
  • Male
  • Mitochondria / pathology
  • Muscles / pathology
  • Muscular Diseases / complications
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology
  • RNA, Transfer, Leu / genetics
  • Syndrome


  • DNA, Mitochondrial
  • RNA, Transfer, Leu